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Phased Genome Assemblies.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2023

Duitama Jorge

Abstract excerpt

The ultimate goal of de novo assembly of reads sequenced from a diploid individual is the separate reconstruction of the sequences corresponding to the two copies of each chromosome. Unfortunately, the allele linkage information needed to perform phased genome assemblies has been difficult to generate. Hence, most current genome assemblies are a haploid mixture of the two underlying chromosome copies present in...

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PMID: 36335504
DOI: 10.1007/978-1-0716-2819-5_16

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